NDUFA12 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
Short Name: NDUFA12 NGS Test
Also known as: NDUFA12-Related Leigh Syndrome Genetic Test, Mitochondrial Complex I Deficiency NDUFA12 Gene Test, NDUFA12 Gene Sequencing Test
NDUFA12 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks after sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic or likely pathogenic variants in the NDUFA12 gene that cause Leigh syndrome due to mitochondrial complex I deficiency. Molecular confirmation can support early diagnosis, guide clinical management, enable family counselling and assist reproductive planning.
- Test Code
- 4184
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please bring the clinical history, prior biochemical or mitochondrial test reports, and any relevant imaging findings. A genetic counselling session to draw a family pedigree is recommended before the test.
Method: Venipuncture or dried blood spot on FTA card
Laboratory Analysis
A trained phlebotomist will collect a blood sample in an EDTA tube, or a single drop of blood may be applied to an FTA card. The procedure is quick and should not cause significant discomfort.
Report Delivery
No special restrictions are needed after sample collection. You may resume normal activities and wait for the report, which is usually available in 3 to 4 weeks.
Timeline: 3 to 4 weeks after sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the NDUFA12 gene that cause Leigh syndrome due to mitochondrial complex I deficiency. Molecular confirmation can support early diagnosis, guide clinical management, enable family counselling and assist reproductive planning.
How to Prepare
- Use the EDTA tube or FTA card provided by the laboratory
- Label the sample clearly with patient name and collection date
- Inform the laboratory of any prior genetic testing, especially NGS or mitochondrial testing
- Transport the sample at room temperature for FTA card or refrigerated for whole blood, as per instructions
- Keep the FTA card protected from moisture and direct sunlight
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Because Leigh syndrome can present with non-specific neurological and metabolic features, a multidisciplinary approach involving neurology, metabolic medicine and genetics is essential. NDUFA12 sequencing should be interpreted together with biochemical markers such as lactate, pyruvate and complex I enzyme assays."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabelled or mislabelled samples
- Insufficient sample quantity
- Clotted whole blood sample
- Haemolysed or contaminated sample
- Improper transport or storage conditions
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Provides molecular confirmation of NDUFA12-related Leigh syndrome / mitochondrial complex I deficiency. Genetic counselling and family testing are recommended.
No pathogenic or likely pathogenic variant detected
Does not rule out a mitochondrial disorder. Further biochemical testing or broader genetic testing may be required based on clinical judgment.
Variant of uncertain significance (VUS) detected
The clinical significance is currently unknown. Additional family studies, functional studies and clinical correlation are needed.
Consult a pediatric neurologist, metabolic physician or clinical geneticist if a child has unexplained developmental delay, hypotonia, seizures, lactic acidosis, abnormal eye movements or a family history of Leigh syndrome.
Limitations
- ⚠NGS may miss certain types of variants such as large deletions, duplications, deep intronic changes or repeat expansions unless additional methods are performed.
- ⚠This test is directed at the NDUFA12 gene and does not cover all nuclear or mitochondrial genes associated with Leigh syndrome.
- ⚠A negative result does not exclude a mitochondrial disorder; clinical and biochemical correlation is required.
- ⚠A variant of uncertain significance may require family segregation studies and further functional evaluation.
Risks & Considerations
- ●Minor pain or bruising at the venipuncture site
- ●Rare local infection or bleeding
- ●No significant direct medical risk from the genetic test itself
Interfering Factors
- ●Poor DNA quality due to sample degradation
- ●Contamination with another individual's DNA
- ●Insufficient DNA quantity from a low-yield sample
- ●Sample mix-up or incorrect labelling
- ●Mixed DNA populations after allogeneic stem cell transplant
Compare With Similar Tests
| Test | NDUFA12 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test | NDUFA12 single-gene NGS test | Leigh syndrome / mitochondrial complex I NGS panel |
|---|---|---|---|
| Comparison | NDUFA12 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test |
Frequently Asked Questions
What is the NDUFA12 gene?
What is Leigh syndrome due to mitochondrial complex I deficiency?
What does this NGS genetic test detect?
What sample is needed for the test?
Is fasting required for this test?
How long does it take to receive the report?
What is the cost of this test?
What do positive and negative results mean?
What is a variant of uncertain significance?
Who should consider this test?
Can this test diagnose all types of mitochondrial disorders?
Why should I choose DNA Labs India for this test?
Related Tests
Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.